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Carpenter Syndrome
Janice L. B. Byrne, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Acrocephalopolysyndactyly type II
              • CRPT-1 and -2
            • Definitions

              • Characterized by preaxial polydactyly, soft tissue syndactyly, cardiac defects, ventral wall abnormalities, and craniosynostosis of multiple sutures

            IMAGING

            • General Features

              • Ultrasonographic Findings

                • Radiographic Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        CLINICAL ISSUES

                        • Presentation

                          • Natural History & Prognosis

                            • Treatment

                              Selected References

                              1. Haye D et al: Prenatal findings in carpenter syndrome and a novel mutation in RAB23. Am J Med Genet A. 164A(11):2926-30, 2014
                              2. Kadakia S et al: Carpenter syndrome: a review for the craniofacial surgeon. J Craniofac Surg. 25(5):1653-7, 2014
                              3. Victorine AS et al: Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly. Am J Med Genet A. 164A(3):820-3, 2014
                              4. Bhardwaj M et al: Caesarean section in a parturient with Carpenter syndrome and corrected Tetralogy of Fallot. Int J Obstet Anesth. 22(3):251-4, 2013
                              5. Bannink N et al: Obstructive sleep apnea in children with syndromic craniosynostosis: long-term respiratory outcome of midface advancement. Int J Oral Maxillofac Surg. 39(2):115-21, 2010
                              6. Cohen MM Jr. Perspectives on craniosynostosis: sutural biology et al: J Craniofac Surg. 2009 Mar;20 Suppl 1:646-51. Erratum in: J Craniofac Surg. 20(5):1629-30, 2009
                              7. Cohen MM Jr: Cloverleaf skulls: etiologic heterogeneity and pathogenetic variability. J Craniofac Surg. 2009 Mar;20 Suppl 1:652-6. Erratum in: J Craniofac Surg. 30(5):1629-30, 2009
                              8. Hidestrand P et al: Carpenter syndrome. J Craniofac Surg. 20(1):254-6, 2009
                              9. Ramos JM et al: Sudden death in a child with Carpenter Syndrome. Case report and literature review. Forensic Sci Med Pathol. 5(4):313-7, 2009
                              10. Batra YK et al: Anesthetic implications of Carpenter syndrome (Acrocephalopolysyndactyly type II). Paediatr Anaesth. 18(12):1235-7, 2008
                              11. Perlyn CA et al: Craniofacial dysmorphology of Carpenter syndrome: lessons from three affected siblings. Plast Reconstr Surg. 121(3):971-81, 2008
                              12. Blankenstein R et al: Oral findings in Carpenter syndrome. Int J Paediatr Dent. 11(5):352-60, 2001
                              13. Balci S et al: A case of Carpenter syndrome diagnosed in a 20-week-old fetus with postmortem examination. Clin Genet. 51(6):412-6, 1997
                              14. Taravath S et al: Cerebral malformations in Carpenter syndrome. Pediatr Neurol. 9(3):230-4, 1993
                              15. Jamil MN et al: Carpenter's syndrome (acrocephalopolysyndactyly type II) with normal intelligence. Br J Neurosurg. 6(3):243-7, 1992
                              16. Robinson LK et al: Carpenter syndrome: natural history and clinical spectrum. Am J Med Genet. 20(3):461-9, 1985
                              Related Anatomy
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                              Related Differential Diagnoses
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                              References
                              Tables

                              Tables

                              KEY FACTS

                              • Terminology

                                • Imaging

                                  • Top Differential Diagnoses

                                    • Pathology

                                      • Clinical Issues

                                        TERMINOLOGY

                                        • Synonyms

                                          • Acrocephalopolysyndactyly type II
                                          • CRPT-1 and -2
                                        • Definitions

                                          • Characterized by preaxial polydactyly, soft tissue syndactyly, cardiac defects, ventral wall abnormalities, and craniosynostosis of multiple sutures

                                        IMAGING

                                        • General Features

                                          • Ultrasonographic Findings

                                            • Radiographic Findings

                                              • Imaging Recommendations

                                                DIFFERENTIAL DIAGNOSIS

                                                  PATHOLOGY

                                                  • General Features

                                                    CLINICAL ISSUES

                                                    • Presentation

                                                      • Natural History & Prognosis

                                                        • Treatment

                                                          Selected References

                                                          1. Haye D et al: Prenatal findings in carpenter syndrome and a novel mutation in RAB23. Am J Med Genet A. 164A(11):2926-30, 2014
                                                          2. Kadakia S et al: Carpenter syndrome: a review for the craniofacial surgeon. J Craniofac Surg. 25(5):1653-7, 2014
                                                          3. Victorine AS et al: Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly. Am J Med Genet A. 164A(3):820-3, 2014
                                                          4. Bhardwaj M et al: Caesarean section in a parturient with Carpenter syndrome and corrected Tetralogy of Fallot. Int J Obstet Anesth. 22(3):251-4, 2013
                                                          5. Bannink N et al: Obstructive sleep apnea in children with syndromic craniosynostosis: long-term respiratory outcome of midface advancement. Int J Oral Maxillofac Surg. 39(2):115-21, 2010
                                                          6. Cohen MM Jr. Perspectives on craniosynostosis: sutural biology et al: J Craniofac Surg. 2009 Mar;20 Suppl 1:646-51. Erratum in: J Craniofac Surg. 20(5):1629-30, 2009
                                                          7. Cohen MM Jr: Cloverleaf skulls: etiologic heterogeneity and pathogenetic variability. J Craniofac Surg. 2009 Mar;20 Suppl 1:652-6. Erratum in: J Craniofac Surg. 30(5):1629-30, 2009
                                                          8. Hidestrand P et al: Carpenter syndrome. J Craniofac Surg. 20(1):254-6, 2009
                                                          9. Ramos JM et al: Sudden death in a child with Carpenter Syndrome. Case report and literature review. Forensic Sci Med Pathol. 5(4):313-7, 2009
                                                          10. Batra YK et al: Anesthetic implications of Carpenter syndrome (Acrocephalopolysyndactyly type II). Paediatr Anaesth. 18(12):1235-7, 2008
                                                          11. Perlyn CA et al: Craniofacial dysmorphology of Carpenter syndrome: lessons from three affected siblings. Plast Reconstr Surg. 121(3):971-81, 2008
                                                          12. Blankenstein R et al: Oral findings in Carpenter syndrome. Int J Paediatr Dent. 11(5):352-60, 2001
                                                          13. Balci S et al: A case of Carpenter syndrome diagnosed in a 20-week-old fetus with postmortem examination. Clin Genet. 51(6):412-6, 1997
                                                          14. Taravath S et al: Cerebral malformations in Carpenter syndrome. Pediatr Neurol. 9(3):230-4, 1993
                                                          15. Jamil MN et al: Carpenter's syndrome (acrocephalopolysyndactyly type II) with normal intelligence. Br J Neurosurg. 6(3):243-7, 1992
                                                          16. Robinson LK et al: Carpenter syndrome: natural history and clinical spectrum. Am J Med Genet. 20(3):461-9, 1985